John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics and medical genetics, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, Australia, under the guidance of Garry Brown and the late David Danks, and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto, Canada, under the mentorship of Joe Clarke and Rod McInnes.He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU), the mitochondrial respiratory chain (energy production) disorders and other inborn errors of metabolism, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders.
He is currently the Director of the Western Sydney Genetics Program, and Professor in the Disciplines of Paediatrics and Child Health and Genetic Medicine, Sydney Medical School, University of Sydney, and in April 2013 became the Head of the Discipline of Genetic Medicine.John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia. John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.
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FEATURED Journal article
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
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Scholarly Works
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Honours, Awards and Fellowships
Member of the Order of Australia
FRCPA - Fellow of the Royal College of Pathologists of Australasia
FRACP - Fellow of the Royal Australasian College of Physicians
Credentials
Positions
Chair In Genomic Medicine
Paediatrics Royal Children'S Hospital
Founding Member
Academy of Child and Adolescent Health
Elected Member
Australian Academy of Health & Medical Sciences
Overseas Member
American College of Medical Genetics
Overseas Member
Society for the Study of Inborn Errors of Metabolism
Overseas Member
Society for Inherited Metabolic Diseases
Overseas Member
American Society of Human Genetics
Financial Member
Human Genetics Society of Australasia
Education
Doctor of Philosophy
University of Melbourne
Certified Clinical Geneticist
Human Genetics Society of Australasia
Bachelor of Medicine Bachelor of Surgery with Honours
University of Sydney